Canonical Allele Identifier: CA372624654
Community Standard Title: NM_130849.4(SLC39A4):c.599C>G (p.Pro200Arg)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144415295G>C , CM000670.2:g.144415295G>C GRCh38
NC_000008.10:g.145640679G>C , CM000670.1:g.145640679G>C GRCh37
NC_000008.9:g.145611487G>C NCBI36
NG_012234.2:g.6596C>G

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.599C>G MANE Select NP_570901.3:p.Pro200Arg
ENST00000301305.8:c.599C>G MANE Select ENSP00000301305.4:p.Pro200Arg
NM_001374839.1:c.317C>G NP_001361768.1:p.Pro106Arg
NM_017767.2:c.524C>G NP_060237.2:p.Pro175Arg
NM_017767.3:c.524C>G NP_060237.3:p.Pro175Arg
NM_130849.3:c.599C>G NP_570901.2:p.Pro200Arg
ENST00000276833.9:c.524C>G ENSP00000276833.5:p.Pro175Arg
ENST00000301305.7:c.599C>G ENSP00000301305.3:p.Pro200Arg
ENST00000526658.1:c.317C>G ENSP00000434512.1:p.Pro106Arg
XM_006716599.1:c.599C>G XP_006716662.1:p.Pro200Arg
XM_011517153.1:c.317C>G XP_011515455.1:p.Pro106Arg
XM_024447188.1:c.317C>G XP_024302956.1:p.Pro106Arg
XM_024447189.1:c.317C>G XP_024302957.1:p.Pro106Arg